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As a result of an A to T transversion, this allele has an aspartic acid to valine mutation at residue 152 in the DNA binding domain. Northern blot indicates mRNA is expressed at normal levels in hematopoitic tissues but a transactivation assay revealed a modest reduction in protein activity as compared to wild-type. (J:89601)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
